Canonical Allele Identifier: CA1486815

Gene: HNRNPU

Linked Data

• dbSNP Id: rs768824112
• ExAC: 1:245027240 CCTCCTCCATCGGGCCCGAGTCGGCCGCCCCCGCGGCCCCGTT / C
• gnomAD v2: 1-245027240-CCTCCTCCATCGGGCCCGAGTCGGCCGCCCCCGCGGCCCCGTT-C
• gnomAD v4: 1-244863938-CCTCCTCCATCGGGCCCGAGTCGGCCGCCCCCGCGGCCCCGTT-C
• MyVariant Identifiers: chr1:g.245027241_245027282del (hg19) ; chr1:g.244863939_244863980del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863945_244863986del , CM000663.2:g.244863945_244863986del	GRCh38
NC_000001.10:g.245027247_245027288del , CM000663.1:g.245027247_245027288del	GRCh37
NC_000001.9:g.243093870_243093911del	NCBI36
NG_042184.1:g.5546_5587del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283179.14:c.328_369del	ENSP00000283179.10:p.Asn110_Glu123del
ENST00000444376.7:c.328_369del	ENSP00000393151.2:p.Asn110_Glu123del
ENST00000476241.2:n.513_554del
ENST00000638475.1:c.112_153del	ENSP00000491305.1:p.Asn38_Glu51del
ENST00000638952.1:n.559_600del
ENST00000640218.2:c.328_369del MANE Select	ENSP00000491215.1:p.Asn110_Glu123del
ENST00000640306.1:c.328_369del	ENSP00000491685.1:p.Asn110_Glu123del
ENST00000640440.1:c.28_69del	ENSP00000491263.1:p.Asn10_Glu23del
ENST00000649899.1:n.552_593del
ENST00000283179.13:c.328_369del	ENSP00000283179.9:p.Asn110_Glu123del
ENST00000444376.6:c.328_369del	ENSP00000393151.2:p.Asn110_Glu123del
ENST00000476241.1:n.512_553del
NM_004501.3:c.328_369del	NP_004492.2:p.Asn110_Glu123del
NM_031844.2:c.328_369del	NP_114032.2:p.Asn110_Glu123del
NM_031844.3:c.328_369del MANE Select	NP_114032.2:p.Asn110_Glu123del